Canonical Allele Identifier: CA2578796170

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024991-CTAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024995_167024999del , CM000668.2:g.167024995_167024999del	GRCh38
NC_000006.11:g.167438483_167438487del , CM000668.1:g.167438483_167438487del	GRCh37
NC_000006.10:g.167358473_167358477del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859+101_859+105del	ENSP00000230248.6:n.859+101_859+105del
ENST00000488525.2:c.*51+101_*51+105del	ENSP00000516042.1:n.*51+101_*51+105del
ENST00000609590.2:n.1791+101_1791+105del
ENST00000704900.1:c.496+101_496+105del	ENSP00000516059.1:n.496+101_496+105del
ENST00000704901.1:c.*506+101_*506+105del	ENSP00000516060.1:n.*506+101_*506+105del
ENST00000704959.1:n.1184+101_1184+105del
ENST00000704982.1:n.1629+101_1629+105del
ENST00000704985.1:n.2025+101_2025+105del
ENST00000704986.1:n.2025+101_2025+105del
ENST00000705029.1:n.1750+101_1750+105del
ENST00000705059.1:n.1574+101_1574+105del
ENST00000705168.1:c.172+101_172+105del	ENSP00000516071.1:n.172+101_172+105del
ENST00000705169.1:c.172+101_172+105del	ENSP00000516072.1:n.172+101_172+105del
ENST00000705170.1:c.172+101_172+105del	ENSP00000516073.1:n.172+101_172+105del
ENST00000705171.1:n.964+101_964+105del
ENST00000705173.1:c.*228+101_*228+105del	ENSP00000516075.1:n.*228+101_*228+105del
ENST00000705175.1:c.1045+101_1045+105del	ENSP00000516077.1:n.1045+101_1045+105del
ENST00000705176.1:c.1105+101_1105+105del	ENSP00000516078.1:n.1105+101_1105+105del
ENST00000705177.1:c.*503+101_*503+105del	ENSP00000516079.1:n.*503+101_*503+105del
ENST00000705178.1:c.442+101_442+105del	ENSP00000516080.1:n.442+101_442+105del
ENST00000705179.1:c.637+101_637+105del	ENSP00000516081.1:n.637+101_637+105del
ENST00000705180.1:c.577+101_577+105del	ENSP00000516082.1:n.577+101_577+105del
ENST00000705235.1:c.919+101_919+105del	ENSP00000516093.1:n.919+101_919+105del
ENST00000705236.1:c.859+101_859+105del	ENSP00000516094.1:n.859+101_859+105del
ENST00000705237.1:c.577+101_577+105del	ENSP00000516095.1:n.577+101_577+105del
ENST00000705238.1:c.778+101_778+105del	ENSP00000516096.1:n.778+101_778+105del
ENST00000705239.1:c.856+101_856+105del	ENSP00000516097.1:n.856+101_856+105del
ENST00000705240.1:c.*528+101_*528+105del	ENSP00000516098.1:n.*528+101_*528+105del
ENST00000705241.1:c.*51+101_*51+105del	ENSP00000516099.1:n.*51+101_*51+105del
ENST00000705242.1:c.856+101_856+105del	ENSP00000516100.1:n.856+101_856+105del
ENST00000705249.1:c.859+101_859+105del	ENSP00000516101.1:n.859+101_859+105del
ENST00000705250.1:c.637+101_637+105del	ENSP00000516102.1:n.637+101_637+105del
ENST00000705251.1:c.*506+101_*506+105del	ENSP00000516103.1:n.*506+101_*506+105del
ENST00000705252.1:c.*329+101_*329+105del	ENSP00000516104.1:n.*329+101_*329+105del
ENST00000705253.1:c.*329+101_*329+105del	ENSP00000516105.1:n.*329+101_*329+105del
ENST00000705254.1:c.466+101_466+105del	ENSP00000516106.1:n.466+101_466+105del
ENST00000705255.1:n.1485+101_1485+105del
ENST00000705256.1:c.916+101_916+105del	ENSP00000516107.1:n.916+101_916+105del
ENST00000366847.9:c.919+101_919+105del MANE Select	ENSP00000355812.3:n.919+101_919+105del
ENST00000349556.4:c.859+101_859+105del	ENSP00000230248.6:n.859+101_859+105del
ENST00000366847.8:c.919+101_919+105del	ENSP00000355812.3:n.919+101_919+105del
ENST00000488525.1:n.105+101_105+105del
ENST00000496181.1:n.424_428del
ENST00000622353.4:c.778+101_778+105del	ENSP00000479115.1:n.778+101_778+105del
NM_001278690.1:c.778+101_778+105del	NP_001265619.1:n.778+101_778+105del
NM_007045.3:c.919+101_919+105del	NP_008976.1:n.919+101_919+105del
NM_194429.2:c.859+101_859+105del	NP_919410.1:n.859+101_859+105del
NM_007045.4:c.919+101_919+105del MANE Select	NP_008976.1:n.919+101_919+105del
NM_194429.3:c.859+101_859+105del	NP_919410.1:n.859+101_859+105del
NM_001278690.2:c.778+101_778+105del	NP_001265619.1:n.778+101_778+105del